GDF3, growth differentiation factor 3, 9573

N. diseases: 74; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906945
rs387906945
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
CUI: C3150969
Disease:
MICROPHTHALMIA, ISOLATED 7 		0.800 GeneticVariation UNIPROT Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010
dbSNP: rs387906946
rs387906946
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
CUI: C3150968
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.800 GeneticVariation UNIPROT Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010
dbSNP: rs146973734
rs146973734
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
CUI: C3150969
Disease:
MICROPHTHALMIA, ISOLATED 7 		0.800 GeneticVariation UNIPROT
dbSNP: rs146973734
rs146973734
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
CUI: C3150969
Disease:
MICROPHTHALMIA, ISOLATED 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387906945
rs387906945
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
CUI: C3150969
Disease:
MICROPHTHALMIA, ISOLATED 7 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906946
rs387906946
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
CUI: C3150968
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		A 0.800 CausalMutation CLINVAR
dbSNP: rs140926412
rs140926412
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
CUI: C3150967
Disease:
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT
dbSNP: rs140926412
rs140926412
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
CUI: C3150968
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.700 GeneticVariation UNIPROT